G2889E (p.Gly2889Glu) variant of LAMA2 (Laminin subunit alpha-2)
G2889E (p.Gly2889Glu) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of LAMA2-related muscular dystrophy. The record also includes variant effect predictions and published literature.
G2889E (p.Gly2889Glu) variant details
- p.Gly2889Glu
- rs2114901040
- ClinGen CA365634959
- ClinVar RCV002020309
- Ensembl rs2114901040
- Likely pathogenic
- LAMA2-related muscular dystrophy
- Missense
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (LAMA2-related muscular dystrophy)
- EBI: Likely pathogenic (in MDC1A)
- UniProt: Likely pathogenic (in MDC1A)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)